1259560001: Congenital multi-minicore disease with external ophthalmoplegia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of soft tissue of head (disorder)\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)

\Finding of movement\Movement disorder\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)
\Finding of movement\Motor dysfunction\Paralysis (finding)\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)

\General finding of soft tissue\Disorder of soft tissue\...

\Disorder of soft tissue of head (disorder)\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)

\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)
\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Multi-core congenital myopathy (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)

\Eye / vision finding\Visual system disorder\...

\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)

\Disorder of eye movements\Neurologic disorder of eye movements (disorder)\Ophthalmoplegia\External ophthalmoplegia (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)

\Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\...

\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)

\Congenital anomaly of skeletal muscle (disorder)\Multi-core congenital myopathy (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)

\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...

\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)
\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Multi-core congenital myopathy (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\Multi-core congenital myopathy (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)

\Neurological finding\Motor nervous system finding (finding)\Motor dysfunction\Paralysis (finding)\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\Multi-core congenital myopathy (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Neurologic disorder of eye movements (disorder)\Ophthalmoplegia\External ophthalmoplegia (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neurologic disorder of eye movements (disorder)\Ophthalmoplegia\External ophthalmoplegia (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Multi-core congenital myopathy (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\Multi-core congenital myopathy (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Multi-core congenital myopathy (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)
\Disease\Disorder of head (disorder)\Disorder of soft tissue of head (disorder)\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)
\Disease\Movement disorder\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)
\Disease\Disorder of soft tissue\Disorder of soft tissue of head (disorder)\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Multi-core congenital myopathy (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\Multi-core congenital myopathy (disorder)\Congenital multi-minicore disease with external ophthalmoplegia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5157299018 Congenital multi-minicore disease with external ophthalmoplegia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5157300014 Congenital multi-minicore disease with external ophthalmoplegia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5157299018 Congenital multi-minicore disease with external ophthalmoplegia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5157300014 Congenital multi-minicore disease with external ophthalmoplegia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

531341000274117 Kongenitale Multi-Minicore-Krankheit mit externer Ophtalmoplegie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

566281000274119 Kongenitale Multi-Minicore-Krankheit mit Ophthalmoplegia externa de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

531341000274117 Kongenitale Multi-Minicore-Krankheit mit externer Ophtalmoplegie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

566281000274119 Kongenitale Multi-Minicore-Krankheit mit Ophthalmoplegia externa de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital multi-minicore disease with external ophthalmoplegia (disorder)	Is a	External ophthalmoplegia (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital multi-minicore disease with external ophthalmoplegia (disorder)	Is a	Multi-core congenital myopathy (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital multi-minicore disease with external ophthalmoplegia (disorder)	Interprets	Movement	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Congenital multi-minicore disease with external ophthalmoplegia (disorder)	Finding site	Structure of extraocular muscle	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital multi-minicore disease with external ophthalmoplegia (disorder)	Finding site	Nervous system structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Congenital multi-minicore disease with external ophthalmoplegia (disorder)	Interprets	Movement observable	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital multi-minicore disease with external ophthalmoplegia (disorder)	Has interpretation	Absent	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital multi-minicore disease with external ophthalmoplegia (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital multi-minicore disease with external ophthalmoplegia (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital multi-minicore disease with external ophthalmoplegia (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital multi-minicore disease with external ophthalmoplegia (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets